Linked Data
dbSNP Id:
rs767101977
ExAC:
8:41790746 TGGC / T
gnomAD v2:
8-41790746-TGGC-T
gnomAD v4:
8-41933228-TGGC-T
COSMIC:
COSM5134633
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.41933238_41933240del , CM000670.2:g.41933238_41933240del | GRCh38 |
| NC_000008.10:g.41790756_41790758del , CM000670.1:g.41790756_41790758del | GRCh37 |
| NC_000008.9:g.41909913_41909915del | NCBI36 |
| NG_042093.1:g.123796_123798del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265713.8:c.4989_4991del MANE Select | ENSP00000265713.2:p.Pro1664del | |
| ENST00000396930.4:c.4989_4991del | ENSP00000380136.3:p.Pro1664del | |
| ENST00000406337.6:c.4995_4997del | ENSP00000385888.2:p.Pro1666del | |
| ENST00000648335.1:c.4989_4991del | ENSP00000497086.1:p.Pro1664del | |
| ENST00000649817.1:c.3670_3672del | ||
| ENST00000265713.6:c.4989_4991del | ENSP00000265713.2:p.Pro1664del | |
| ENST00000396930.3:c.4989_4991del | ENSP00000380136.3:p.Pro1664del | |
| ENST00000406337.5:c.4989_4991del | ENSP00000385888.1:p.Pro1664del | |
| NM_001099412.1:c.4989_4991del | NP_001092882.1:p.Pro1664del | |
| NM_001099413.1:c.4989_4991del | NP_001092883.1:p.Pro1664del | |
| NM_006766.3:c.4989_4991del | NP_006757.2:p.Pro1664del | |
| NM_006766.4:c.4989_4991del | NP_006757.2:p.Pro1664del | |
| XM_011544656.1:c.5121_5123del | XP_011542958.1:p.Pro1708del | |
| XM_011544657.1:c.5121_5123del | XP_011542959.1:p.Pro1708del | |
| XM_011544658.1:c.5121_5123del | XP_011542960.1:p.Pro1708del | |
| XM_011544659.1:c.5100_5102del | XP_011542961.1:p.Pro1701del | |
| XM_011544660.1:c.5007_5009del | XP_011542962.1:p.Pro1670del | |
| XM_011544656.2:c.5121_5123del | XP_011542958.1:p.Pro1708del | |
| XM_011544657.3:c.5121_5123del | XP_011542959.1:p.Pro1708del | |
| XM_011544658.3:c.5121_5123del | XP_011542960.1:p.Pro1708del | |
| XM_011544659.2:c.5100_5102del | XP_011542961.1:p.Pro1701del | |
| XM_017013863.1:c.4989_4991del | XP_016869352.1:p.Pro1664del | |
| XM_017013864.2:c.4989_4991del | XP_016869353.1:p.Pro1664del | |
| XM_024447285.1:c.3561_3563del | XP_024303053.1:p.Pro1188del | |
| NM_006766.5:c.4989_4991del MANE Select | NP_006757.2:p.Pro1664del |